Incidental Mutation 'R0798:Crppa'
| ID |
76497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crppa
|
| Ensembl Gene |
ENSMUSG00000043153 |
| Gene Name |
CDP-L-ribitol pyrophosphorylase A |
| Synonyms |
Ispd, 4930579E17Rik |
| MMRRC Submission |
038978-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0798 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
36431449-36739502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36571998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 302
(R302H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152872
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062041]
[ENSMUST00000221177]
[ENSMUST00000221452]
[ENSMUST00000223205]
|
| AlphaFold |
Q5RJG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062041
AA Change: R352H
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000061646
Gene: ENSMUSG00000043153
AA Change: R352H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IspD
|
45 |
277 |
2.5e-40 |
PFAM |
|
Pfam:NTP_transf_3
|
47 |
274 |
3.1e-11 |
PFAM |
|
low complexity region
|
359 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221177
AA Change: R253H
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221452
AA Change: R352H
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223205
AA Change: R302H
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (30/30) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit neonatal lethality due to respiratory failure, abnormal axon guidance and fasciculation, abnormal dorsal funiculus, detachment of radial glial cell endfeet and neuronal heterotopias. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930579C12Rik |
T |
A |
9: 89,034,880 (GRCm39) |
|
noncoding transcript |
Het |
| Baz2a |
T |
A |
10: 127,962,192 (GRCm39) |
|
probably benign |
Het |
| Bcar3 |
T |
C |
3: 122,318,948 (GRCm39) |
V695A |
probably benign |
Het |
| C130074G19Rik |
G |
A |
1: 184,614,873 (GRCm39) |
|
probably benign |
Het |
| Cmas |
T |
C |
6: 142,710,382 (GRCm39) |
V167A |
probably damaging |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,343 (GRCm39) |
E234G |
probably damaging |
Het |
| Gopc |
C |
T |
10: 52,234,907 (GRCm39) |
G79S |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,785,431 (GRCm39) |
|
probably null |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnq5 |
A |
G |
1: 22,031,399 (GRCm39) |
|
probably null |
Het |
| Lpp |
G |
T |
16: 24,790,622 (GRCm39) |
G29* |
probably null |
Het |
| Ly6g6e |
T |
C |
17: 35,297,017 (GRCm39) |
F86S |
probably benign |
Het |
| Myo5c |
T |
C |
9: 75,165,266 (GRCm39) |
F358S |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,488,410 (GRCm39) |
Y613H |
probably benign |
Het |
| Or4k38 |
T |
C |
2: 111,165,689 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,495 (GRCm39) |
Y232* |
probably null |
Het |
| Plekhn1 |
T |
A |
4: 156,312,720 (GRCm39) |
D46V |
probably damaging |
Het |
| Ptp4a1 |
A |
T |
1: 30,984,005 (GRCm39) |
|
probably benign |
Het |
| Rab23 |
A |
T |
1: 33,773,908 (GRCm39) |
I123F |
probably damaging |
Het |
| Samd4b |
G |
A |
7: 28,101,048 (GRCm39) |
|
probably benign |
Het |
| Shisa4 |
G |
A |
1: 135,300,886 (GRCm39) |
|
probably benign |
Het |
| Slc39a11 |
C |
T |
11: 113,414,330 (GRCm39) |
A90T |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,397,024 (GRCm39) |
Y788H |
probably damaging |
Het |
| Tasor |
T |
A |
14: 27,198,593 (GRCm39) |
F1308L |
probably damaging |
Het |
| Tial1 |
C |
T |
7: 128,045,602 (GRCm39) |
M327I |
probably benign |
Het |
| Ubr2 |
C |
T |
17: 47,280,102 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,648,858 (GRCm39) |
S630P |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,868 (GRCm39) |
N155S |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 126,997,316 (GRCm39) |
P312S |
probably benign |
Het |
|
| Other mutations in Crppa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01753:Crppa
|
APN |
12 |
36,523,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Crppa
|
APN |
12 |
36,597,918 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0329:Crppa
|
UTSW |
12 |
36,431,837 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0513:Crppa
|
UTSW |
12 |
36,440,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Crppa
|
UTSW |
12 |
36,526,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1704:Crppa
|
UTSW |
12 |
36,571,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1937:Crppa
|
UTSW |
12 |
36,440,367 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1987:Crppa
|
UTSW |
12 |
36,571,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Crppa
|
UTSW |
12 |
36,523,179 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5726:Crppa
|
UTSW |
12 |
36,597,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6508:Crppa
|
UTSW |
12 |
36,476,298 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7315:Crppa
|
UTSW |
12 |
36,440,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7395:Crppa
|
UTSW |
12 |
36,551,994 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7819:Crppa
|
UTSW |
12 |
36,431,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8392:Crppa
|
UTSW |
12 |
36,440,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Crppa
|
UTSW |
12 |
36,440,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9280:Crppa
|
UTSW |
12 |
36,571,975 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9401:Crppa
|
UTSW |
12 |
36,552,073 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACAATGTCAGAGAATGGACCCTGC -3'
(R):5'- TTTGAGCCACATGACCACAGCC -3'
Sequencing Primer
(F):5'- GAGATGCAAGTATTGCTTCCAAC -3'
(R):5'- GGCACAAGTCAGCAGAAATATC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation